Annotation Summary for Cell Line: JVM-2  

Cell line primary name: JVM-2
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_F01_474730
SNP arrays: MISTS_p_NCLE_DNAAffy11_GenomeWideSNP_6_G09_578344
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in JVM-2

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ACACB p.M1366V 12 109670568 109670568 JVM2_HAEMATOPOI... 37 Missense_Mutation SNP A G uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ADAM17 2 9630245 9630245 JVM2_HAEMATOPOI... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 JVM2_HAEMATOPOI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS18 p.N339N 16 77397738 77397738 JVM2_HAEMATOPOI... 37 Silent SNP G A uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 JVM2_HAEMATOPOI... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 JVM2_HAEMATOPOI... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 JVM2_HAEMATOPOI... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
C17ORF37 17 37885640 37885641 JVM2_HAEMATOPOI... 37 3'UTR Ins - G rs75811535 uc002hsq.2 Hybrid_Cap...
CACNB2 10 18828721 18828722 JVM2_HAEMATOPOI... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CCNB1 p.N12K 5 68463749 68463749 JVM2_HAEMATOPOI... 37 Missense_Mutation SNP T G uc003jvm.2 CCNB1_uc011crd.... Hybrid_Cap... view
CDC42BPA p.L435V 1 227327364 227327364 JVM2_HAEMATOPOI... 37 Missense_Mutation SNP G C uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDK18 1 205500512 205500512 JVM2_HAEMATOPOI... 37 3'UTR SNP G A uc001hcr.2 CDK18_uc001hcp.... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 JVM2_HAEMATOPOI... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 JVM2_HAEMATOPOI... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CXCL12 10 44873992 44873993 JVM2_HAEMATOPOI... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DACH1 13 72014625 72014626 JVM2_HAEMATOPOI... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DAPK1 9 90262191 90262191 JVM2_HAEMATOPOI... 37 Intron SNP A G uc004apc.2 DAPK1_uc004ape.... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 JVM2_HAEMATOPOI... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EIF2AK1 p.T297A 7 6080753 6080753 JVM2_HAEMATOPOI... 37 Missense_Mutation SNP T C uc003spp.2 EIF2AK1_uc003sp... Hybrid_Cap... view
EP300 22 41574970 41574972 JVM2_HAEMATOPOI... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA6 3 97467610 97467611 JVM2_HAEMATOPOI... 37 3'UTR Ins - CT uc010how.1 Hybrid_Cap...
FANCM p.Q1701* 14 45658326 45658326 JVM2_HAEMATOPOI... 37 Nonsense_Mutation SNP C T uc001wwd.3 FANCM_uc010anf.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 JVM2_HAEMATOPOI... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 JVM2_HAEMATOPOI... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 JVM2_HAEMATOPOI... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FYN p.V63I 6 112041068 112041068 JVM2_HAEMATOPOI... 37 Missense_Mutation SNP C T rs62620251 uc003pvj.2 FYN_uc003pvi.2_... Hybrid_Cap... view
FZD1 7 90896245 90896245 JVM2_HAEMATOPOI... 37 3'UTR SNP T G uc003ula.2 Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 JVM2_HAEMATOPOI... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 JVM2_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 JVM2_HAEMATOPOI... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 JVM2_HAEMATOPOI... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 JVM2_HAEMATOPOI... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 JVM2_HAEMATOPOI... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
HSP90B1 12 104341645 104341648 JVM2_HAEMATOPOI... 37 3'UTR Del ACTG - rs2307842 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IL21R 16 27441380 27441380 JVM2_HAEMATOPOI... 37 5'UTR SNP C T uc002doq.1 IL21R_uc002dor.... Hybrid_Cap... view
ILK 11 6630029 6630029 JVM2_HAEMATOPOI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 JVM2_HAEMATOPOI... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JARID2 6 15246671 15246671 JVM2_HAEMATOPOI... 37 5'UTR SNP A C uc003nbj.2 JARID2_uc011diu... Hybrid_Cap... view
KLK7 19 51480672 51480675 JVM2_HAEMATOPOI... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LIFR p.P821R 5 38485956 38485956 JVM2_HAEMATOPOI... 37 Missense_Mutation SNP G C uc010ive.1 LIFR_uc003jli.2... Hybrid_Cap... view
LRP2 p.G2470V 2 170062680 170062680 JVM2_HAEMATOPOI... 37 Missense_Mutation SNP C A uc002ues.2 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 JVM2_HAEMATOPOI... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 JVM2_HAEMATOPOI... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 JVM2_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K7 p.M392K 6 91257012 91257012 JVM2_HAEMATOPOI... 37 Missense_Mutation SNP A T uc003pnz.1 MAP3K7_uc003poa... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 JVM2_HAEMATOPOI... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
NCAM1 11 112832307 112832308 JVM2_HAEMATOPOI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 JVM2_HAEMATOPOI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA2 p.G27R 8 71128902 71128902 JVM2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003xyn.1 Hybrid_Cap... view
NCOA3 p.Q1276del 20 46279837 46279839 JVM2_HAEMATOPOI... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 JVM2_HAEMATOPOI... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK5 13 52701753 52701753 JVM2_HAEMATOPOI... 37 5'UTR SNP C A uc001vge.2 NEK5_uc001vgf.2... Hybrid_Cap... view
NFATC1 18 77287653 77287654 JVM2_HAEMATOPOI... 37 3'UTR Del AA - uc010xfg.1 NFATC1_uc002lnd... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 JVM2_HAEMATOPOI... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 JVM2_HAEMATOPOI... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223158653 223158653 JVM2_HAEMATOPOI... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.L601fs 1 144915624 144915624 JVM2_HAEMATOPOI... 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 JVM2_HAEMATOPOI... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.P63T 1 145015901 145015901 JVM2_HAEMATOPOI... 37 Missense_Mutation SNP G T uc001elx.3 NBPF10_uc009wir... Hybrid_Cap... view
PDGFRA 4 55131002 55131002 JVM2_HAEMATOPOI... 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PGR 11 100933598 100933599 JVM2_HAEMATOPOI... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIGU p.L208F 20 33203851 33203851 JVM2_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002xas.2 PIGU_uc010zul.1... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 JVM2_HAEMATOPOI... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PLD1 p.F58fs 3 171455436 171455436 JVM2_HAEMATOPOI... 37 Frame_Shift_Del Del G - uc003fhs.2 PLD1_uc003fht.2... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 JVM2_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RANBP17 5 170336806 170336806 JVM2_HAEMATOPOI... 37 Intron SNP A G uc003mba.2 RANBP17_uc003ma... Hybrid_Cap... view
RAPGEF2 p.L687fs 4 160262725 160262726 JVM2_HAEMATOPOI... 37 Frame_Shift_Ins Ins - A uc003iqg.3 Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 JVM2_HAEMATOPOI... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RET 10 43623836 43623836 JVM2_HAEMATOPOI... 37 3'UTR SNP G A uc001jal.2 Hybrid_Cap... view
SGK196 8 42978201 42978201 JVM2_HAEMATOPOI... 37 3'UTR Del T - uc003xpw.2 Hybrid_Cap...
SHH p.R33T 7 155604719 155604719 JVM2_HAEMATOPOI... 37 Missense_Mutation SNP C G uc003wmk.1 SHH_uc003wmh.1_... Hybrid_Cap... view
STAG3 p.S688S 7 99798715 99798715 JVM2_HAEMATOPOI... 37 Silent SNP G A uc003utx.1 STAG3_uc010lgs.... Hybrid_Cap... view
STK31 7 23872024 23872025 JVM2_HAEMATOPOI... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
SULF1 p.A75T 8 70488255 70488255 JVM2_HAEMATOPOI... 37 Missense_Mutation SNP G A uc010lza.1 SULF1_uc003xyd.... Hybrid_Cap... view
TGFB2 1 218519928 218519929 JVM2_HAEMATOPOI... 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TMEM123 11 102269398 102269398 JVM2_HAEMATOPOI... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TMEM123 11 102269461 102269461 JVM2_HAEMATOPOI... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNIK 3 171178018 171178018 JVM2_HAEMATOPOI... 37 5'UTR SNP T G uc003fhh.2 TNIK_uc003fhi.2... Hybrid_Cap... view
TNRC6B p.Q1328del 22 40697177 40697179 JVM2_HAEMATOPOI... 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP63 3 189507518 189507519 JVM2_HAEMATOPOI... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TTN p.R29784C 2 179407527 179407527 JVM2_HAEMATOPOI... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 JVM2_HAEMATOPOI... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...